Marie Joubert

Biography

• Montreal Children’s Hospital
• Demonstrator in Neurology; Montreal neurological hospital

Medical Eponyms

Joubert syndrome (1969)

Joubert syndrome is a clinically and genetically heterogeneous group of disorders characterized by hypoplasia of the cerebellar vermis with the characteristic neuroradiologic ‘molar tooth sign,’ and accompanying neurologic symptoms, including dysregulation of breathing pattern and developmental delay [OMIM #213300]

In 1969, Joubert et al, described 4 French Canadian sibs, born of distantly related parents, with a severe neurologic disorder characterized by episodic hyperpnea, abnormal eye movements, ataxia, and global psychomotor retardation. Partial or complete agenesis of the cerebellar vermis was demonstrated by autopsy or pneumoencephalogram. One patient also had an occipital meningomyelocele. The oldest living sib was 8 years old. [OMIM #614615; JBTS17]

In 1977, Boltshauser and Isler suggested the designation of Joubert syndrome (based on the 1969 article) and described 3 cases, 2 of them sibs.

Major Publications

• Joubert M, Eisenring JJ, Andermann F. Familial dysgenesis of the vermis: a syndrome of hyperventilation, abnormal eye movements and retardation. Neurology. 1968; 18(3): 302-303.
• Joubert M, Eisenring JJ, Robb JP, Andermann F. Familial agenesis of the cerebellar vermis. A syndrome of episodic hyperpnea, abnormal eye movements, ataxia, and retardation. Neurology. 1969;19(9):813-825.
• Andermann F, Andermann E, Ptito A, Fontaine S, Joubert M. History of Joubert syndrome and a 30-year follow-up of the original proband. J Child Neurol. 1999;14(9):565-569.

References

• Boltshauser E, Isler W. Joubert syndrome: episodic hyperpnea, abnormal eye movements, retardation and ataxia, associated with dysplasia of the cerebellar vermis. Neuropadiatrie. 1977;8(1):57-66.
• Elhassanien AF, Alghaiaty HA. Joubert syndrome: Clinical and radiological characteristics of nine patients. Ann Indian Acad Neurol. 2013;16(2):239-244.